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1.
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegeneration.
Cell
; 186(6): 1162-1178.e20, 2023 03 16.
Article
in English
| MEDLINE | ID: mdl-36931244
2.
Hidden Concepts in the History and Philosophy of Origins-of-Life Studies: a Workshop Report.
Orig Life Evol Biosph
; 49(3): 111-145, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31399826
3.
The severity of MUSK pathogenic variants is predicted by the protein domain they disrupt.
HGG Adv
; 5(3): 100288, 2024 Apr 01.
Article
in English
| MEDLINE | ID: mdl-38566418
4.
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.
medRxiv
; 2024 Mar 29.
Article
in English
| MEDLINE | ID: mdl-38585825
5.
A single-cell transcriptomic atlas of complete insect nervous systems across multiple life stages.
Neural Dev
; 17(1): 8, 2022 08 24.
Article
in English
| MEDLINE | ID: mdl-36002881
6.
Rapid Whole Genome Sequencing in Critically Ill Neonates Enables Precision Medicine Pipeline.
J Pers Med
; 12(11)2022 Nov 18.
Article
in English
| MEDLINE | ID: mdl-36422100
7.
Circuits for integrating learned and innate valences in the insect brain.
Elife
; 102021 11 10.
Article
in English
| MEDLINE | ID: mdl-34755599
8.
MuscleViz: Free Open-Source Software for Muscle Weakness Visualization.
J Neuromuscul Dis
; 6(2): 263-266, 2019.
Article
in English
| MEDLINE | ID: mdl-31127729
9.
Adult MTM1-related myopathy carriers: Classification based on deep phenotyping.
Neurology
; 93(16): e1535-e1542, 2019 10 15.
Article
in English
| MEDLINE | ID: mdl-31541013
10.
Correction: A single-cell transcriptomic atlas of complete insect nervous systems across multiple life stages.
Neural Dev
; 17(1): 11, 2022 Oct 26.
Article
in English
| MEDLINE | ID: mdl-36289550
11.
Increasing proportions of tyrosine hydroxylase-immunoreactive interneurons colocalize with choline acetyltransferase or vasoactive intestinal peptide in the developing rat cerebral cortex.
Brain Res
; 1383: 108-19, 2011 Apr 06.
Article
in English
| MEDLINE | ID: mdl-21295554
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